American Journal of Medical Genetics Part A

Cover image for Vol. 155 Issue 2

February 2011

Volume 155, Issue 2

Pages C1–C1, fm i–fm x, 269–458

  1. Cover Image

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Introduction
    6. Research Articles
    7. Conference Reports
    8. Research Articles
    9. In Memoriam
    10. New Syndrome
    11. Conference Reports
    12. Research Reviews
    13. Research Articles
    14. Invited Comments
    15. Clinical Reports
    16. Research Letters
    17. Correspondence
    1. You have free access to this content
  2. Table of Contents

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Introduction
    6. Research Articles
    7. Conference Reports
    8. Research Articles
    9. In Memoriam
    10. New Syndrome
    11. Conference Reports
    12. Research Reviews
    13. Research Articles
    14. Invited Comments
    15. Clinical Reports
    16. Research Letters
    17. Correspondence
    1. You have free access to this content
  3. the AJMG SEQUENCE

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Introduction
    6. Research Articles
    7. Conference Reports
    8. Research Articles
    9. In Memoriam
    10. New Syndrome
    11. Conference Reports
    12. Research Reviews
    13. Research Articles
    14. Invited Comments
    15. Clinical Reports
    16. Research Letters
    17. Correspondence
    1. You have free access to this content
    2. You have free access to this content
    3. You have free access to this content
      In this issue (page fm x)

      Version of Record online: 26 JAN 2011 | DOI: 10.1002/ajmg.a.33921

  4. Introduction

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Introduction
    6. Research Articles
    7. Conference Reports
    8. Research Articles
    9. In Memoriam
    10. New Syndrome
    11. Conference Reports
    12. Research Reviews
    13. Research Articles
    14. Invited Comments
    15. Clinical Reports
    16. Research Letters
    17. Correspondence
    1. You have free access to this content
  5. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Introduction
    6. Research Articles
    7. Conference Reports
    8. Research Articles
    9. In Memoriam
    10. New Syndrome
    11. Conference Reports
    12. Research Reviews
    13. Research Articles
    14. Invited Comments
    15. Clinical Reports
    16. Research Letters
    17. Correspondence
    1. You have free access to this content
      Cranial neural crest cells on the move: Their roles in craniofacial development (pages 270–279)

      Dwight R. Cordero, Samantha Brugmann, Yvonne Chu, Ruchi Bajpai, Maryam Jame and Jill A. Helms

      Version of Record online: 10 DEC 2010 | DOI: 10.1002/ajmg.a.33702

  6. Conference Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Introduction
    6. Research Articles
    7. Conference Reports
    8. Research Articles
    9. In Memoriam
    10. New Syndrome
    11. Conference Reports
    12. Research Reviews
    13. Research Articles
    14. Invited Comments
    15. Clinical Reports
    16. Research Letters
    17. Correspondence
    1. You have free access to this content
  7. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Introduction
    6. Research Articles
    7. Conference Reports
    8. Research Articles
    9. In Memoriam
    10. New Syndrome
    11. Conference Reports
    12. Research Reviews
    13. Research Articles
    14. Invited Comments
    15. Clinical Reports
    16. Research Letters
    17. Correspondence
    1. Interparietal bone (Os Incae) in craniosynostosis (pages 287–294)

      June K. Wu, James T. Goodrich, Chiemezie C. Amadi, Todd Miller, John B. Mulliken and Alan L. Shanske

      Version of Record online: 22 DEC 2010 | DOI: 10.1002/ajmg.a.33800

  8. In Memoriam

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Introduction
    6. Research Articles
    7. Conference Reports
    8. Research Articles
    9. In Memoriam
    10. New Syndrome
    11. Conference Reports
    12. Research Reviews
    13. Research Articles
    14. Invited Comments
    15. Clinical Reports
    16. Research Letters
    17. Correspondence
    1. In Memoriam Ihsan Dogramacı (1915–2010) (pages 295–296)

      Sevim Balcı

      Version of Record online: 26 JAN 2011 | DOI: 10.1002/ajmg.a.33469

  9. New Syndrome

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Introduction
    6. Research Articles
    7. Conference Reports
    8. Research Articles
    9. In Memoriam
    10. New Syndrome
    11. Conference Reports
    12. Research Reviews
    13. Research Articles
    14. Invited Comments
    15. Clinical Reports
    16. Research Letters
    17. Correspondence
    1. You have free access to this content
    2. You have free access to this content
      A new syndrome with multiple capillary malformations, intractable seizures, and brain and limb anomalies (pages 301–306)

      Melissa T. Carter, Michael T. Geraghty, Laura De La Cruz, R. Ross Reichard, Luigi Boccuto, Charles E. Schwartz and Carol L. Clericuzio

      Version of Record online: 26 JAN 2011 | DOI: 10.1002/ajmg.a.33841

  10. Conference Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Introduction
    6. Research Articles
    7. Conference Reports
    8. Research Articles
    9. In Memoriam
    10. New Syndrome
    11. Conference Reports
    12. Research Reviews
    13. Research Articles
    14. Invited Comments
    15. Clinical Reports
    16. Research Letters
    17. Correspondence
    1. You have free access to this content
      Back to the future: Proceedings from the 2010 NF Conference (pages 307–321)

      Susan M. Huson, Maria T. Acosta, Allan J. Belzberg, Andre Bernards, Jonathan Chernoff, Karen Cichowski, D. Gareth Evans, Rosalie E. Ferner, Marco Giovannini, Bruce R. Korf, Robert Listernick, Kathryn N. North, Roger J. Packer, Luis F. Parada, Juha Peltonen, Vijaya Ramesh, Karlyne M. Reilly, John W. Risner, Elizabeth K. Schorry, Meena Upadhyaya, David H. Viskochil, Yuan Zhu, Kim Hunter-Schaedle and Filippo G. Giancotti

      Version of Record online: 22 DEC 2010 | DOI: 10.1002/ajmg.a.33804

  11. Research Reviews

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Introduction
    6. Research Articles
    7. Conference Reports
    8. Research Articles
    9. In Memoriam
    10. New Syndrome
    11. Conference Reports
    12. Research Reviews
    13. Research Articles
    14. Invited Comments
    15. Clinical Reports
    16. Research Letters
    17. Correspondence
    1. You have free access to this content
      Richieri-Costa–Pereira syndrome: A unique acrofacial dysostosis type. An overview of the Brazilian cases (pages 322–331)

      Francine Pinheiro Favaro, Roseli Maria Zechi-Ceide, Camila Wenceslau Alvarez, Luciana P. Maximino, Luis Fernando B. B. Antunes, Antonio Richieri-Costa and Maria Leine Guion-Almeida

      Version of Record online: 22 DEC 2010 | DOI: 10.1002/ajmg.a.33806

  12. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Introduction
    6. Research Articles
    7. Conference Reports
    8. Research Articles
    9. In Memoriam
    10. New Syndrome
    11. Conference Reports
    12. Research Reviews
    13. Research Articles
    14. Invited Comments
    15. Clinical Reports
    16. Research Letters
    17. Correspondence
    1. Al-Awadi–Raas-Rothschild (limb/pelvis/uterus–hypoplasia/aplasia) syndrome and WNT7A mutations: Genetic homogeneity and nosological delineation (pages 332–336)

      Livia Garavelli, Anita Wischmeijer, Simonetta Rosato, Chiara Gelmini, Sandro Reverberi, Silvia Sassi, Adriano Ferrari, Francesca Mari, Bernhard Zabel, Ekkehart Lausch, Sheila Unger and Andrea Superti-Furga

      Version of Record online: 22 DEC 2010 | DOI: 10.1002/ajmg.a.33793

    2. You have free access to this content
      Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia (pages 337–342)

      Carol Clericuzio, Karine Harutyunyan, Weidong Jin, Robert P. Erickson, Alan D. Irvine, W.H. Irwin McLean, Yaran Wen, Rochelle Bagatell, Thomas A. Griffin, Tor A. Shwayder, Sharon E. Plon and Lisa L. Wang

      Version of Record online: 22 DEC 2010 | DOI: 10.1002/ajmg.a.33807

    3. Array-based MLPA to detect recurrent copy number variations in patients with idiopathic mental retardation (pages 343–348)

      Liesbeth Rooms, Geert Vandeweyer, Edwin Reyniers, Kurt van Mol, Ilse de Canck, Nathalie Van der Aa, Rudi Rossau and R. Frank Kooy

      Version of Record online: 14 JAN 2011 | DOI: 10.1002/ajmg.a.33810

    4. Pure and complete 12p trisomy due to a maternal centric fission of chromosome 12 (pages 349–352)

      Zafer Cetin, Ercan Mihci, Sezin Yakut, Ibrahim Keser, Sibel Berker Karauzum and Guven Luleci

      Version of Record online: 13 JAN 2011 | DOI: 10.1002/ajmg.a.33811

    5. Clinical follow-up of young adults affected by Williams syndrome: Experience of 45 Italian patients (pages 353–359)

      Maria Francesca Bedeschi, Vera Bianchi, Anna Maria Colli, Federica Natacci, Anna Cereda, Donatella Milani, Silvia Maitz, Faustina Lalatta and Angelo Selicorni

      Version of Record online: 13 JAN 2011 | DOI: 10.1002/ajmg.a.33819

  13. Invited Comments

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Introduction
    6. Research Articles
    7. Conference Reports
    8. Research Articles
    9. In Memoriam
    10. New Syndrome
    11. Conference Reports
    12. Research Reviews
    13. Research Articles
    14. Invited Comments
    15. Clinical Reports
    16. Research Letters
    17. Correspondence
  14. Clinical Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Introduction
    6. Research Articles
    7. Conference Reports
    8. Research Articles
    9. In Memoriam
    10. New Syndrome
    11. Conference Reports
    12. Research Reviews
    13. Research Articles
    14. Invited Comments
    15. Clinical Reports
    16. Research Letters
    17. Correspondence
    1. You have free access to this content
      The severe end of the spectrum: Hypoplastic left heart in Potocki-Lupski syndrome (pages 363–366)

      Amarilis Sanchez-Valle, Mary Ella Pierpont and Lorraine Potocki

      Version of Record online: 13 JAN 2011 | DOI: 10.1002/ajmg.a.33844

    2. Potocki–Lupski syndrome: An inherited dup(17)(p11.2p11.2) with hypoplastic left heart (pages 367–371)

      Roman Yusupov, Amy E. Roberts, Ronald V. Lacro, Mary Sandstrom and Azra H. Ligon

      Version of Record online: 26 JAN 2011 | DOI: 10.1002/ajmg.a.33845

    3. Intragenic deletions of IL1RAPL1: Report of two cases and review of the literature (pages 372–379)

      Anne Behnecke, Katrin Hinderhofer, Oliver Bartsch, Astrid Nümann, Marie-Luise Ipach, Natalja Damatova, Thomas Haaf, Andreas Dufke, Olaf Riess and Ute Moog

      Version of Record online: 28 OCT 2010 | DOI: 10.1002/ajmg.a.33656

    4. Cerebrovasculopathy in NF1 associated with ocular and scalp defects (pages 380–385)

      Matt Smith, Manraj K.S. Heran, Mary B. Connolly, Harindar K. Heran, J.M. Friedman, Kimberly Jett, Christopher J. Lyons, Paul Steinbok and Linlea Armstrong

      Version of Record online: 22 DEC 2010 | DOI: 10.1002/ajmg.a.33788

    5. 47, XY, +der(Y),t(X;Y)(p21.1;p11.2): A unique case of XY sex reversal (pages 386–391)

      Yuri A. Zarate, Alka Dwivedi, Frank O. Bartel, Ken Corning and Barbara R. DuPont

      Version of Record online: 22 DEC 2010 | DOI: 10.1002/ajmg.a.33799

    6. A patient with a de novo distal 22q11.2 microdeletion and anxiety disorder (pages 392–397)

      Willem Verhoeven, Jos Egger, Han Brunner and Nicole de Leeuw

      Version of Record online: 22 DEC 2010 | DOI: 10.1002/ajmg.a.33802

    7. The nosology of Richieri-Costa/Guion-Almeida syndrome(s) (pages 398–402)

      Marco Castori, Piero Cascone, Marco Brinelli, Giorgio Iannetti and Paola Grammatico

      Version of Record online: 22 DEC 2010 | DOI: 10.1002/ajmg.a.33805

    8. A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan–McDermid syndrome and hypergonadotropic hypogonadism (pages 403–408)

      D. Misceo, O.K. Rødningen, T. Barøy, H. Sorte, J.R. Mellembakken, P. Strømme, M. Fannemel and E. Frengen

      Version of Record online: 14 JAN 2011 | DOI: 10.1002/ajmg.a.33798

    9. A de novo deletion of 20q11.2–q12 in a boy presenting with abnormal hands and feet, retinal dysplasia, and intractable feeding difficulty (pages 409–414)

      Yoko Hiraki, Akira Nishimura, Michiko Hayashidani, Yoshiko Terada, Gen Nishimura, Nobuhiko Okamoto, Sachiko Nishina, Yoshinori Tsurusaki, Hiroshi Doi, Hirotomo Saitsu, Noriko Miyake and Naomichi Matsumoto

      Version of Record online: 13 JAN 2011 | DOI: 10.1002/ajmg.a.33818

    10. Microdeletion of 17q22q23.2 encompassing TBX2 and TBX4 in a patient with congenital microcephaly, thyroid duct cyst, sensorineural hearing loss, and pulmonary hypertension (pages 418–423)

      Manjunath Nimmakayalu, Heather Major, Val Sheffield, Donald H. Solomon, Richard J. Smith, Shivanand R. Patil and Oleg A. Shchelochkov

      Version of Record online: 13 JAN 2011 | DOI: 10.1002/ajmg.a.33827

    11. 2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features (pages 424–429)

      Brian H.Y. Chung, James Stavropoulos, Christian R. Marshall, Rosanna Weksberg, Stephen W. Scherer and Grace Yoon

      Version of Record online: 26 JAN 2011 | DOI: 10.1002/ajmg.a.33821

    12. Prenatal diagnosis and molecular characterization of two constitutional rings derived from one chromosome 22 (pages 430–433)

      Macoura Gadji, Kada Krabchi, Paul Langis, Azeddine Aboura, Martine Périgny, Stéphanie Côté, Mélissa Ferland and Régen Drouin

      Version of Record online: 26 JAN 2011 | DOI: 10.1002/ajmg.a.33654

  15. Research Letters

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Introduction
    6. Research Articles
    7. Conference Reports
    8. Research Articles
    9. In Memoriam
    10. New Syndrome
    11. Conference Reports
    12. Research Reviews
    13. Research Articles
    14. Invited Comments
    15. Clinical Reports
    16. Research Letters
    17. Correspondence
    1. Suspected trisomy 22: Modification, clarification, or confirmation of the diagnosis by aCGH (pages 434–438)

      Gary Fruhman, Ayman W. El-Hattab, John W. Belmont, Ankita Patel, Sau Wai Cheung and V. Reid Sutton

      Version of Record online: 22 DEC 2010 | DOI: 10.1002/ajmg.a.33792

    2. Novel L1CAM splice site mutation in a young male with L1 syndrome (pages 439–441)

      Malin Rehnberg, Jon Jonasson and Cecilia Gunnarsson

      Version of Record online: 22 DEC 2010 | DOI: 10.1002/ajmg.a.33803

    3. De novo duplication of 18p11.21–18q12.1 in a female with anorectal malformation (pages 445–449)

      Charlotte Schramm, Markus Draaken, Enrika Bartels, Thomas M. Boemers, Eberhard Schmiedeke, Sabine Grasshoff-Derr, Stefanie Märzheuser, Stuart Hosie, Stefan Holland-Cunz, Friederike Baudisch, Lutz Priebe, Per Hoffmann, Alexander M. Zink, Hartmut Engels, Felix F. Brockschmidt, Stefan Aretz, Markus M. Nöthen, Michael Ludwig and Heiko Reutter

      Version of Record online: 13 JAN 2011 | DOI: 10.1002/ajmg.a.33820

    4. A de novo cryptic 5p deletion and 9p duplication detected by subtelomeric MLPA in a boy with cri du chat syndrome (pages 450–454)

      Carolina R. Lincoln-de-Carvalho, Fabíola M.P. Vicente, Társis A.P. Vieira, Maricilda P. de Mello and Antonia P. Marques-de-Faria

      Version of Record online: 26 JAN 2011 | DOI: 10.1002/ajmg.a.33458

  16. Correspondence

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Introduction
    6. Research Articles
    7. Conference Reports
    8. Research Articles
    9. In Memoriam
    10. New Syndrome
    11. Conference Reports
    12. Research Reviews
    13. Research Articles
    14. Invited Comments
    15. Clinical Reports
    16. Research Letters
    17. Correspondence
    1. Cerebral dysgenesis does not exclude OFD I syndrome (pages 455–457)

      Christel Thauvin-Robinet, Gaëtan Lesca, Bernard Aral, Nadège Gigot, Sandy Lambert, Lucie Gueneau, Marina Macca, Brunella Franco, Frédéric Huet, Marie-Thérèse Zabot, Tania Attié-Bitach, Jocelyne Attia-Sobol and Laurence Faivre

      Version of Record online: 13 JAN 2011 | DOI: 10.1002/ajmg.a.33812

    2. Goldenhar syndrome phenotypes and 22q11 deletion (page 458)

      Sevim Balcı and Özlem Engiz

      Version of Record online: 26 JAN 2011 | DOI: 10.1002/ajmg.a.33754

SEARCH

SEARCH BY CITATION